BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 32599536)

  • 1. Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.
    Kara B; Sarıkaya CE; Bayrak YE; Güneş AS; Güngör M; Yeşil G
    Seizure; 2020 Aug; 80():181-182. PubMed ID: 32599536
    [No Abstract]   [Full Text] [Related]  

  • 2. SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
    Ranza E; Garcia-Tarodo S; Varvagiannis K; Guipponi M; Lobrinus JA; Bottani A; Kern I; Kurian M; Pittet MP; Antonarakis SE; Fluss J; Korff CM
    Am J Med Genet A; 2017 Sep; 173(9):2456-2460. PubMed ID: 28631894
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
    Berrechid AG; Bendjebara M; Bouteiller D; Nasri A; Peuvion JN; Marie Y; Baulac S; Mrabet S; Ribierre T; Cazeneuve C; Imenkacem ; Leguern E; Gouider R
    Epileptic Disord; 2019 Aug; 21(4):359-365. PubMed ID: 31368437
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.
    Chan EM; Andrade DM; Franceschetti S; Minassian B
    Adv Neurol; 2005; 95():47-57. PubMed ID: 15508913
    [No Abstract]   [Full Text] [Related]  

  • 5. The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
    Ramachandran N; Girard JM; Turnbull J; Minassian BA
    Epilepsia; 2009 May; 50 Suppl 5():29-36. PubMed ID: 19469843
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two sisters with myoclonus and ataxia.
    Pereira M; Durães J; Macário MDC
    Pract Neurol; 2020 May; 20(3):249-252. PubMed ID: 32161095
    [No Abstract]   [Full Text] [Related]  

  • 7. Molecular background of progressive myoclonus epilepsy.
    Lehesjoki AE
    EMBO J; 2003 Jul; 22(14):3473-8. PubMed ID: 12853462
    [TBL] [Abstract][Full Text] [Related]  

  • 8. On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
    Lohi H; Chan EM; Scherer SW; Minassian BA
    Adv Neurol; 2006; 97():399-415. PubMed ID: 16383151
    [No Abstract]   [Full Text] [Related]  

  • 9. [Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].
    Zhang J; Zhou J; Ji C; Wu D; Wang K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):432-436. PubMed ID: 38565508
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).
    Singh S; Plotnikova L; Karvonen K; Ryytty S; Hyppönen J; Kälviäinen R; Hämäläinen RH
    Stem Cell Res; 2023 Dec; 73():103248. PubMed ID: 37951142
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
    Shahwan A; Farrell M; Delanty N
    Lancet Neurol; 2005 Apr; 4(4):239-48. PubMed ID: 15778103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
    Joensuu T; Kuronen M; Alakurtti K; Tegelberg S; Hakala P; Aalto A; Huopaniemi L; Aula N; Michellucci R; Eriksson K; Lehesjoki AE
    Eur J Hum Genet; 2007 Feb; 15(2):185-93. PubMed ID: 17003839
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
    Coppola G; Criscuolo C; De Michele G; Striano S; Barbieri F; Striano P; Perretti A; Santoro L; Brescia Morra V; Saccà F; Scarano V; D'Adamo AP; Banfi S; Gasparini P; Santorelli FM; Lehesjoki AE; Filla A
    J Neurol; 2005 Aug; 252(8):897-900. PubMed ID: 15742102
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
    Cameron JM; Ellis CA; Berkovic SF; ;
    Epileptic Disord; 2023 Oct; 25(5):670-680. PubMed ID: 37616028
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
    Gourfinkel-An I; Duyckaerts C; Camuzat A; Meyrignac C; Sonderegger P; Baulac M; Brice A
    Neurology; 2007 Jul; 69(1):79-83. PubMed ID: 17606885
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
    Ilyas M; Tariq F; Ishaq R; Habiba U; Bibi F; Khan SN; Ali Y; Haider S; Efthymiou S; Abdullah U; Raja GK; Shaiq PA
    Epilepsy Res; 2024 Mar; 201():107283. PubMed ID: 38382230
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Advances in the genetics of progressive myoclonus epilepsy.
    Delgado-Escueta AV; Ganesh S; Yamakawa K
    Am J Med Genet; 2001; 106(2):129-38. PubMed ID: 11579433
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
    Kecmanović M; Ristić AJ; Sokić D; Keckarević-Marković M; Vojvodić N; Ercegovac M; Janković S; Keckarević D; Savić-Pavićević D; Romac S
    Epilepsia; 2009 Jun; 50(6):1612-5. PubMed ID: 19170735
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
    Santoshkumar B; Turnbull J; Minassian BA
    Pediatr Neurol; 2008 Apr; 38(4):252-5. PubMed ID: 18358403
    [TBL] [Abstract][Full Text] [Related]  

  • 20. KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
    Yoganathan S; Whitney R; Thomas M; Danda S; Chettali AM; Prasad AN; Farhan SMK; AlSowat D; Abukhaled M; Aldhalaan H; Gowda VK; Kinhal UV; Bylappa AY; Konanki R; Lingappa L; Parchuri BM; Appendino JP; Scantlebury MH; Cunningham J; Hadjinicolaou A; El Achkar CM; Kamate M; Menon RN; Jose M; Riordan G; Kannan L; Jain V; Manokaran RK; Chau V; Donner EJ; Costain G; Minassian BA; Jain P
    Epilepsia; 2024 Mar; 65(3):709-724. PubMed ID: 38231304
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.